Evidence map›Paper›PMID 11791212›Full record

ArticleAmerican journal of human genetics2002

Score tests for association between traits and haplotypes when linkage phase is ambiguous.

Daniel J Schaid, Charles M Rowland, David E Tines, Robert M Jacobson, Gregory A Poland

Abstract read
In one paragraph

Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 805 papers.

0numbers the graph read from it
0cells of the map it votes in
805citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

805 citing papers in PubMed.

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  11. FunctionalInternational journal of molecular sciences · 2025
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  13. Clinical and Metabolic Signatures ofKidney international reports · 2025
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  19. Genetic variants and mRNA expression levels ofJournal of biomedical research · 2024
    Article
  20. VEGF Polymorphisms (International journal of molecular sciences · 2024
    Article

745 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Daniel J SchaidDepartment of Health Sciences Research, Mayo Clinic/Foundation, Rochester, MN 55905, USA. schaid@mayo.edu
Charles M Rowland
David E Tines
Robert M Jacobson
Gregory A Poland

Funding

The Immunogenetics of Measles ImmunityR01AI033144 · NIAID · MAYO CLINIC ROCHESTER · PI POLAND, GREGORY A. · 1993 to 2022
$8.1M
Quantitative Methods for Genetic EpidemiologyR01GM065450 · NIGMS · MAYO CLINIC ROCHESTER · PI SCHAID, DANIEL J. · 2002 to 2020
$5.6M
QUANTITATIVE ASSOCIATION METHODS FOR GENE MAPPINGR01DE013276 · NIDCR · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI SCHAID, DANIEL J. · 1999 to 2001
$499k
HLA AND VACCINES (BAA)N01AI045240 · NIAID · MAYO CLINIC COLL OF MEDICINE, ROCHESTER · PI POLAND, GREGORY A. · 1994 to 1998
–
NIAID NIH HHS N01 AI45240NIAID NIH HHS R01 2AI33144NIAID NIH HHS R01 AI033144NIDCR NIH HHS R01 DE13276NIGMS NIH HHS R01 GM065450
6 · The paper itself

Abstract

A key step toward the discovery of a gene related to a trait is the finding of an association between the trait and one or more haplotypes. Haplotype analyses can also provide critical information regarding the function of a gene; however, when unrelated subjects are sampled, haplotypes are often ambiguous because of unknown linkage phase of the measured sites along a chromosome. A popular method of accounting for this ambiguity in case-control studies uses a likelihood that depends on haplotype frequencies, so that the haplotype frequencies can be compared between the cases and controls; however, this traditional method is limited to a binary trait (case vs. control), and it does not provide a method of testing the statistical significance of specific haplotypes. To address these limitations, we developed new methods of testing the statistical association between haplotypes and a wide variety of traits, including binary, ordinal, and quantitative traits. Our methods allow adjustment for nongenetic covariates, which may be critical when analyzing genetically complex traits. Furthermore, our methods provide several different global tests for association, as well as haplotype-specific tests, which give a meaningful advantage in attempts to understand the roles of many different haplotypes. The statistics can be computed rapidly, making it feasible to evaluate the associations between many haplotypes and a trait. To illustrate the use of our new methods, they are applied to a study of the association of haplotypes (composed of genes from the human-leukocyte-antigen complex) with humoral immune response to measles vaccination. Limited simulations are also presented to demonstrate the validity of our methods, as well as to provide guidelines on how our methods could be used.

Indexed as

AlgorithmsCase-Control StudiesChi-Square DistributionChromosome MappingComputer SimulationGenetic LinkageGenetic Predisposition to DiseaseHaplotypesHLA AntigensHumansMeasles VaccineQuantitative Trait, HeritableReproducibility of ResultsResearch DesignSoftwareHLA AntigensMeasles Vaccine

Identifiers

PMID11791212
PMCPMC384917

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.